These patients showed a trend towards an earlier onset than those carrying a heterozygous variant of c.1333G>A, whereas serum CK levels were highly variable depending on the case, and no certain trend was observed.
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A Patient with Calpainopathy Carrying Compound Heterozygous Mutations of a De Novo Pathogenic Variant of c.1333G>A and a Novel Variant of c.1331C>T in CAPN3.
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